A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4281779



Internal ID20463854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17454932..17651308hg38UCSC Ensembl
chr21:18827250..19023626hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38196377
hg19196377
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15966668
Samples
Known GenesBTG3, CXADR
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4281779
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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